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Gene : CHRNA4 Homo sapiens

Name  ? cholinergic receptor nicotinic alpha 4 subunit Cytological Location  20q13.33
Brief Description  cholinergic receptor nicotinic alpha 4 subunit
Description  This gene encodes a nicotinic acetylcholine receptor, which belongs to a superfamily of ligand-gated ion channels that play a role in fast signal transmission at synapses. These pentameric receptors can bind acetylcholine, which causes an extensive change in conformation that leads to the opening of an ion-conducting channel across the plasma membrane. This protein is an integral membrane receptor subunit that can interact with either nAChR beta-2 or nAChR beta-4 to form a functional receptor. Mutations in this gene cause nocturnal frontal lobe epilepsy type 1. Polymorphisms in this gene that provide protection against nicotine addiction have been described. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2012]
  • synonyms:
  • EBN1,
  • NM_000744,
  • cholinergic receptor, nicotinic, alpha polypeptide 4,
  • EBN,
  • BFNC,
  • cholinergic receptor, nicotinic, alpha 4 (neuronal),
  • CHRNA4,
  • cholinergic receptor, nicotinic alpha 4,
  • acetylcholine receptor, nicotinic, alpha 4 (neuronal),
  • BFNC,
  • uc002yes.4,
  • NACRA4,
  • HGNC:1958,
  • NACHR,
  • OTTHUMG00000033080,
  • NACHRA4,
  • EBN,
  • EBN1
  • identifiers:
  • 1137,
  • ENSG00000101204,
  • CHRNA4

Genome feature

Region: gene ? Length: 32249  
Location: 20:63343223-63375471 reverse strand Cyto location: 20q13.33

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2 Diseases

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452 SNPs

5 Cross References

19 Data Sets

13 Homologues

0 Located Features

97 Rna Seq Results